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Function

This protein is involved in chloride channel activity. It's a membrane transport protein that catalyzes the reaction: ATP + H(2)O = ADP + phosphate It play a large role in the function of cystic fibrosis transmembrane conductance regulator (CFTR)

Disease

Cystic Fibrosis Mutations that result in the deletion of residue Phe-508 (DeltaF508) in the first nucleotide-binding domain (NBD1) results in a severe reduction in the population of functional channels at the epithelial cell surface. The mutation is a deletion of three nucleotides spanning positions 507 and 508 of the CFTR gene on chromosome 7, which ultimately results in the loss of a single codon for the amino acid phenylalanine (F). A person with the CFTRΔF508 mutation will produce an abnormal CFTR protein that lacks this phenylalanine residue and which cannot fold properly. This protein does not escape the endoplasmic reticulum for further processing. Having two copies of this mutation (one inherited from each parent) is by far the most common cause of cystic fibrosis (CF), responsible for nearly two-thirds of cases worldwide.

Relevance

Structural highlights

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